{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2455035160",
  "communityStandardTitle": [
    "NM_012084.4(GLUD2):c.820C= (p.Arg274=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28928873",
        "rs": 28928873
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 121048504,
          "referenceAllele": "C",
          "start": 121048503
        }
      ],
      "hgvs": [
        "NC_000023.11:g.121048504C=",
        "CM000685.2:g.121048504C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 120182358,
          "referenceAllele": "C",
          "start": 120182357
        }
      ],
      "hgvs": [
        "NC_000023.10:g.120182358C=",
        "CM000685.1:g.120182358C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 120010039,
          "referenceAllele": "C",
          "start": 120010038
        }
      ],
      "hgvs": [
        "NC_000023.9:g.120010039C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5897,
          "referenceAllele": "C",
          "start": 5896
        }
      ],
      "hgvs": [
        "NG_016456.1:g.5897C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003198"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004336",
      "geneNCBI_id": 2747,
      "geneSymbol": "GLUD2",
      "hgvs": [
        "ENST00000328078.3:c.820C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327589.1:p.Arg274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328078.3:c.820C="
          },
          "RefSeq": {
            "hgvs": "NM_012084.4:c.820C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327589.1:p.Arg274="
          },
          "RefSeq": {
            "hgvs": "NP_036216.2:p.Arg274="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004336",
      "geneNCBI_id": 2747,
      "geneSymbol": "GLUD2",
      "hgvs": [
        "ENST00000328078.2:c.820C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327589.1:p.Arg274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063190836",
      "coordinates": [
        {
          "allele": "C",
          "end": 897,
          "referenceAllele": "C",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004336",
      "geneNCBI_id": 2747,
      "geneSymbol": "GLUD2",
      "hgvs": [
        "NM_012084.3:c.820C="
      ],
      "proteinEffect": {
        "hgvs": "NP_036216.2:p.Arg274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032293"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063190836",
      "coordinates": [
        {
          "allele": "C",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004336",
      "geneNCBI_id": 2747,
      "geneSymbol": "GLUD2",
      "hgvs": [
        "NM_012084.4:c.820C="
      ],
      "proteinEffect": {
        "hgvs": "NP_036216.2:p.Arg274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696990",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328078.3:c.820C="
          },
          "RefSeq": {
            "hgvs": "NM_012084.4:c.820C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327589.1:p.Arg274="
          },
          "RefSeq": {
            "hgvs": "NP_036216.2:p.Arg274="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}